PURPOSE: Stargardt disease (STGD) is the most prevalent juvenile macular dystrophy, and it has been associated with mutations in the ABCR gene, encoding a photoreceptor-specific transport protein. In this study, we determined the mutation spectrum in the ABCR gene in a group of Italian STGD patients. METHODS: The DNA samples of 71 Italian patients (from 62 independent pedigrees), affected with autosomal recessive STGD, were analysed for mutations in all 50 exons of the ABCR gene by the DHPLC approach (with optimization of the DHPLC conditions for mutation analysis) and direct sequencing techniques. RESULTS: In our group of STGD patients, 71 mutations were identified in 68 patients with a detection rate of 95.7%. Forty-three mutations had been already reported in the literature, whereas 28 mutations had not been previously described and were not detected in 150 unaffected control individuals of Italian origin. Missense mutations represented the most frequent finding (59.2%); G1961E was the most common mutation and it was associated with phenotypes in various degrees of severity. CONCLUSIONS: Some novel mutations in the ABCR gene were reported in a group of Italian STGD patients confirming the extensive allelic heterogeneity of this gene-probably related to the vast number of exons that favours rearrangements in the DNA sequence.
PURPOSE:Stargardt disease (STGD) is the most prevalent juvenile macular dystrophy, and it has been associated with mutations in the ABCR gene, encoding a photoreceptor-specific transport protein. In this study, we determined the mutation spectrum in the ABCR gene in a group of Italian STGDpatients. METHODS: The DNA samples of 71 Italian patients (from 62 independent pedigrees), affected with autosomal recessive STGD, were analysed for mutations in all 50 exons of the ABCR gene by the DHPLC approach (with optimization of the DHPLC conditions for mutation analysis) and direct sequencing techniques. RESULTS: In our group of STGDpatients, 71 mutations were identified in 68 patients with a detection rate of 95.7%. Forty-three mutations had been already reported in the literature, whereas 28 mutations had not been previously described and were not detected in 150 unaffected control individuals of Italian origin. Missense mutations represented the most frequent finding (59.2%); G1961E was the most common mutation and it was associated with phenotypes in various degrees of severity. CONCLUSIONS: Some novel mutations in the ABCR gene were reported in a group of Italian STGDpatients confirming the extensive allelic heterogeneity of this gene-probably related to the vast number of exons that favours rearrangements in the DNA sequence.
Authors: Tomas R Burke; Gerald A Fishman; Jana Zernant; Carl Schubert; Stephen H Tsang; R Theodore Smith; Radha Ayyagari; Robert K Koenekoop; Allison Umfress; Maria Laura Ciccarelli; Alfonso Baldi; Alessandro Iannaccone; Frans P M Cremers; Caroline C W Klaver; Rando Allikmets Journal: Invest Ophthalmol Vis Sci Date: 2012-07-03 Impact factor: 4.799
Authors: Marcela D Mena; Angélica A Moresco; Sofía H Vidal; Diana Aguilar-Cortes; María G Obregon; Adriana C Fandiño; Juan M Sendoya; Andrea S Llera; Osvaldo L Podhajcer Journal: Front Genet Date: 2021-03-26 Impact factor: 4.599
Authors: Tommaso Verdina; Stephen H Tsang; Vivienne C Greenstein; Jana Zernant; Andrea Sodi; Luiz H Lima; Stanley Chang; Rando Allikmets; Ugo Menchini Journal: J Clin Exp Ophthalmol Date: 2012-07-30
Authors: Samuel P Strom; Yong-Qing Gao; Ariadna Martinez; Carolina Ortube; Zugen Chen; Stanley F Nelson; Steven Nusinowitz; Deborah B Farber; Michael B Gorin Journal: BMC Med Genet Date: 2012-08-03 Impact factor: 2.103